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NM_198253.3(TERT):c.2011C>T (p.Arg671Trp) AND Dyskeratosis congenita

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 20, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004559086.1

Allele description [Variation Report for NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)]

NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)

Gene:
TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_198253.3(TERT):c.2011C>T (p.Arg671Trp)
HGVS:
  • NC_000005.10:g.1279410G>A
  • NG_009265.1:g.20638C>T
  • NM_001193376.3:c.2011C>T
  • NM_198253.3:c.2011C>TMANE SELECT
  • NP_001180305.1:p.Arg671Trp
  • NP_937983.2:p.Arg671Trp
  • NP_937983.2:p.Arg671Trp
  • LRG_343t1:c.2011C>T
  • LRG_343:g.20638C>T
  • LRG_343p1:p.Arg671Trp
  • NC_000005.9:g.1279525G>A
  • NM_198253.2:c.2011C>T
  • NM_198253.3:c.2011C>T
  • NR_149162.3:n.2090C>T
  • NR_149163.3:n.2090C>T
  • p.Arg671Trp
Protein change:
R671W; ARG671TRP
Links:
OMIM: 187270.0024; dbSNP: rs1060503011
NCBI 1000 Genomes Browser:
rs1060503011
Molecular consequence:
  • NM_001193376.3:c.2011C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198253.3:c.2011C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_149162.3:n.2090C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_149163.3:n.2090C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Dyskeratosis congenita
Identifiers:
MONDO: MONDO:0015780; MedGen: C0265965; OMIM: PS127550

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005049096Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 20, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV005049096.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.R671W variant (also known as c.2011C>T), located in coding exon 5 of the TERT gene, results from a C to T substitution at nucleotide position 2011. The arginine at codon 671 is replaced by tryptophan, an amino acid with dissimilar properties. This variant has been reported in individuals with interstitial pneumonia (Snetselaar R et al. PLoS One, 2017 Dec;12:e0189467) and pulmonary fibrosis (Diaz de Leon A et al. PLoS One, 2010 May;5:e10680; Newton CA et al. Eur Respir J, 2016 Dec;48:1710-1720; Maryoung L et al. J Clin Invest, 2017 Mar;127:982-986; Aria). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024